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Leber congenital amaurosis 15

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.
Uniprot Description A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Disease Ontology Description A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3.
Mondo Term and Equivalent IDs
MONDO:0013457:  Leber congenital amaurosis 15
GARD:0010884: 
UMLS:C3151206: